A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17566



Internal ID9615409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47443008..47653053hg38UCSC Ensembl
Innerchr17:45520374..45730419hg19UCSC Ensembl
Innerchr17:42875373..43085418hg18UCSC Ensembl
Innerchr17:42875373..43085418hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38210046
hg19210046
hg18210046
hg17210046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758458
Supporting Variants
SamplesNA12762
Known GenesKPNB1, MRPL45P2, NPEPPS
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv17566
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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